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Haim Munk syndrome and Papillon Lefevre syndrome – allelic mutations in cathepsin C with variation in phenotype

Identifieur interne : 005262 ( Main/Exploration ); précédent : 005261; suivant : 005263

Haim Munk syndrome and Papillon Lefevre syndrome – allelic mutations in cathepsin C with variation in phenotype

Auteurs : Reena Rai ; S. Thiagarajan [Inde] ; Soumya Mohandas ; Karthika Natarajan ; C. Shanmuga Sekar ; S. Ramalingam [Inde]

Source :

International Journal of Dermatology [ 0011-9059 ] ; 2010-05.

RBID : ISTEX:F6FBB316347D9A5627FF1BC674DB4C72DCC2BB39

English descriptors

KwdEn :
- Abscess, Acral, Acral osteolysis, Allelic, Allelic variants, Amino, Arachnodactyly, Cathepsin, Cochin, Ctsc, Dermatol, Dermatology, Environmental factors, Epithelium, Exon, Genet, Haim, Haim munk syndrome, Homozygous point mutation, International society, Junctional, Junctional epithelium, Keratoderma, Munk, Mutation, Onychogryphosis, Osteolysis, Palmoplantar, Palmoplantar keratoderma, Periodontal, Periodontitis, Phenotype, Planus, Syndrome.
Teeft :
- Abscess, Acral, Acral osteolysis, Allelic, Allelic variants, Amino, Arachnodactyly, Cathepsin, Cochin, Ctsc, Dermatol, Dermatology, Environmental factors, Epithelium, Exon, Genet, Haim, Haim munk syndrome, Homozygous point mutation, International society, Junctional, Junctional epithelium, Keratoderma, Munk, Mutation, Onychogryphosis, Osteolysis, Palmoplantar, Palmoplantar keratoderma, Periodontal, Periodontitis, Phenotype, Planus, Syndrome.

Abstract

Papillon–Lefevre syndrome and Haim Munk syndrome are palmoplantar keratodermas associated with premature periodontal destruction. The additional findings of Haim Munk Syndrome include onychogryphosis, arachnodactyly, acral osteolysis and pes planus. Both are associated with mutations in the lysosomal protease cathepsin C. We describe a patient with phenotype for Haim Munk Syndrome and genetic analysis revealed a homozygous point mutation in exon 1 of the gene encoding cathepsin C.

Url:

https://api.istex.fr/document/F6FBB316347D9A5627FF1BC674DB4C72DCC2BB39/fulltext/pdf

DOI: 10.1111/j.1365-4632.2010.04300.x

Affiliations:

Inde

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Le document en format XML

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<front><div type="abstract" xml:lang="en">Papillon–Lefevre syndrome and Haim Munk syndrome are palmoplantar keratodermas associated with premature periodontal destruction. The additional findings of Haim Munk Syndrome include onychogryphosis, arachnodactyly, acral osteolysis and pes planus. Both are associated with mutations in the lysosomal protease cathepsin C. We describe a patient with phenotype for Haim Munk Syndrome and genetic analysis revealed a homozygous point mutation in exon 1 of the gene encoding cathepsin C.</div>
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Haim Munk syndrome and Papillon Lefevre syndrome – allelic mutations in cathepsin C with variation in phenotype

Haim Munk syndrome and Papillon Lefevre syndrome – allelic mutations in cathepsin C with variation in phenotype

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

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